RAC1, Rac family small GTPase 1, 5879

N. diseases: 415; N. variants: 20
Disease: Dwarfism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.020 Biomarker disease BEFREE Studies of mice conditionally lacking Rac1 have revealed essential roles for Rac1 in various tissues, including cartilage and limb mesenchyme, where Rac1 loss produces dwarfism and long bone shortening. 28977598 2017
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.020 GeneticVariation disease BEFREE We had shown recently that chondrocyte-specific deletion of the gene Rac1 in mice leads to severe dwarfism due to reduced chondrocyte proliferation, but the molecular pathways involved remained unclear. 21965529 2011